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SLC2A4RG
Identifikatori
Aliasi	SLC2A4RG
Vanjski ID-jevi	OMIM: 609493 HomoloGene: 88865 GeneCards: SLC2A4RG
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	63,744,050 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • vezivanje sa DNK; • vezivanje iona metala; • nucleic acid binding; • GO:0001158 cis-regulatory region sequence-specific DNA binding;
Ćelijska komponenta	• citoplazma; • nuclear speck; • jedro;
Biološki proces	• GO:0009373 regulation of transcription, DNA-templated; • transcription, DNA-templated; • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II;
	Izvori:Amigo / QuickGO
Ortolozi
	56731
	n/a
	ENSG00000125520
	n/a
	Q9NR83
	n/a
	NM_020062
	n/a
	NP_064446
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Regulator SLC2A4 jest protein koji je kod ljudi kodiran genom SLC2A4RG.^[3]^[4]

Protein koji je kodiran ovim genom je jedarni faktor transkripcije koji je uključen u aktivaciju porodice nosača rastvorne supstance 2, član 4. Kodirani protein u interakciji je s drugim transkripcijskim faktorom, miocitnim pojačivačem faktora 2, da aktivira transkripciju ovog gena.^[4]

Kloniranje i ekspresija

Oshel et al. (2000) identificirali su regiju u 5-glavnom UTR-u GLUT4, označenu kao domen I, koji je bila potrebN za punu GLUT4 promotorsku funkciju. Koristeći tri tandemska ponavljanja domena I na 1-hibridnom skriningu kvaščeve biblioteke cDNK skeletnih mišića, klonirali su djelomičnu SLC2A4RG cDNK, koju su označili kao GEF. Izvedeni protein sadrži domen koja veže DNK i signal jedarne lokalizacije (NLS). Western blot analiza srčanog mišića otkrila je GEF proteine od oko 50 i 70 kD. Analizom Northern blot-a, Knight et al. (2003) otkrili su transkript GEF-a od 1,9 kb u srcu, skeletnim mišićima, jetri, bubrezima i gušterači, ali ne i u plućima, posteljici ili mozgu. GEF označen fluorescencijom lokaliziran u jedrima transficiranih COS-7 ćelija. Korištenje promotorske regije HD gena (HTT; 613004) u 1-hibridnom pregledu kvasca u cDNK biblioteci testisa, Tanaka et al. (2004) klonirali su SLC2A4RG, koji su nazvali HDBP1. Izvedeni protein od 387 aminokiselina ima izračunatu molekulsku masu od 46 kD. HDBP1 sadrži središnju regiju bogatu serinima, zatim regiju bogatu prolinom i domen cinkovog prsta, tipa C2H2. Također ima tri regije koje su visoko konzervirane s HDBP2 (ZNF395; 609494) i mišjim induciranim glukokortikoidom gen-1 (Gig1), kao i dva NLS-a i tri jedarna izlasna signala (NES). Northern blot analizom otkriven je transkript od 1,8 kb u svim ispitivanim tkivima. HDBP1, označen fluorescencijom, lokaliziran u citoplazmi HeLa ćelija i ljudskoj neuronskoj ćelijskoj liniji, a lokalizacija je prebačena na jdra, nakon inhibicije jedarnog iznosa. Mutageneza usmjerena na lokaciju pokazala je da su treći NSZ i drugi NLS HDBP1 bili funkcionalni.^[5]^[6]^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125520 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Oshel KM, Knight JB, Cao KT, Thai MV, Olson AL (Sep 2000). "Identification of a 30-base pair regulatory element and novel DNA binding protein that regulates the human GLUT4 promoter in transgenic mice". J Biol Chem. 275 (31): 23666–73. doi:10.1074/jbc.M001452200. PMID 10825161.
^ ^a ^b "Entrez Gene: SLC2A4RG SLC2A4 regulator".
^ Knight, J. B., Eyster, C. A., Griesel, B. A., Olson, A. L. Regulation of the human GLUT4 gene promoter: interaction between a transcriptional activator and myocyte enhancer factor 2A. Proc. Nat. Acad. Sci. 100: 14725-14730, 2003. [PubMed]: 14630949,
^ Oshel, K. M., Knight, J. B., Cao, K. T., Thai, M. V., Olson, A. L. Identification of a 30-base pair regulatory element and novel DNA binding protein that regulates the human GLUT4 promoter in transgenic mice. J. Biol. Chem. 275: 23666-23673, 2000. [PubMed]: 10825161,
^ Tanaka, K., Shouguchi-Miyata, J., Miyamoto, N., Ikeda, J. Novel nuclear shuttle proteins, HDBP1 and HDBP2, bind to neuronal cell-specific cis-regulatory element in the promoter for the human Huntington's disease gene. J. Biol. Chem. 279: 7275-7286, 2004. [PubMed]: 14625278.

Dopunska literatura

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Xu XR, Huang J, Xu ZG, et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 15089–94. doi:10.1073/pnas.241522398. PMC 64988. PMID 11752456.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Tanaka K, Shouguchi-Miyata J, Miyamoto N, Ikeda JE (2004). "Novel nuclear shuttle proteins, HDBP1 and HDBP2, bind to neuronal cell-specific cis-regulatory element in the promoter for the human Huntington's disease gene". J. Biol. Chem. 279 (8): 7275–86. doi:10.1074/jbc.M310726200. PMID 14625278.
Knight JB, Eyster CA, Griesel BA, Olson AL (2004). "Regulation of the human GLUT4 gene promoter: interaction between a transcriptional activator and myocyte enhancer factor 2A". Proc. Natl. Acad. Sci. U.S.A. 100 (25): 14725–30. doi:10.1073/pnas.2432756100. PMC 299781. PMID 14630949.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
McGee SL, Sparling D, Olson AL, Hargreaves M (2006). "Exercise increases MEF2- and GEF DNA-binding activity in human skeletal muscle". FASEB J. 20 (2): 348–9. doi:10.1096/fj.05-4671fje. PMID 16368714. S2CID 13881696.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125520 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10825161-3] Oshel KM, Knight JB, Cao KT, Thai MV, Olson AL (Sep 2000). "Identification of a 30-base pair regulatory element and novel DNA binding protein that regulates the human GLUT4 promoter in transgenic mice". J Biol Chem. 275 (31): 23666–73. doi:10.1074/jbc.M001452200. PMID 10825161.

[entrez-4] "Entrez Gene: SLC2A4RG SLC2A4 regulator".

[5] Knight, J. B., Eyster, C. A., Griesel, B. A., Olson, A. L. Regulation of the human GLUT4 gene promoter: interaction between a transcriptional activator and myocyte enhancer factor 2A. Proc. Nat. Acad. Sci. 100: 14725-14730, 2003. [PubMed]: 14630949,

[6] Oshel, K. M., Knight, J. B., Cao, K. T., Thai, M. V., Olson, A. L. Identification of a 30-base pair regulatory element and novel DNA binding protein that regulates the human GLUT4 promoter in transgenic mice. J. Biol. Chem. 275: 23666-23673, 2000. [PubMed]: 10825161,

[7] Tanaka, K., Shouguchi-Miyata, J., Miyamoto, N., Ikeda, J. Novel nuclear shuttle proteins, HDBP1 and HDBP2, bind to neuronal cell-specific cis-regulatory element in the promoter for the human Huntington's disease gene. J. Biol. Chem. 279: 7275-7286, 2004. [PubMed]: 14625278.

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